Canonical Allele Identifier: CA2744617666
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042927_94042928insC , CM000663.2:g.94042927_94042928insC GRCh38
NC_000001.10:g.94508483_94508484insC , CM000663.1:g.94508483_94508484insC GRCh37
NC_000001.9:g.94281071_94281072insC NCBI36
NG_009073.1:g.83222_83223insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3191-30_3191-29insG MANE Select ENSP00000359245.3:n.3191-30_3191-29insG
ENST00000370225.3:c.3191-30_3191-29insG ENSP00000359245.3:n.3191-30_3191-29insG
ENST00000536513.5:c.-64-2839_-64-2838insG ENSP00000439707.2:n.-64-2839_-64-2838insG
NM_000350.2:c.3191-30_3191-29insG NP_000341.2:n.3191-30_3191-29insG
NM_000350.3:c.3191-30_3191-29insG MANE Select NP_000341.2:n.3191-30_3191-29insG